Cargando…
A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria
Around 15% of patients with Parkinson's disease (PD) have a family history, and 5–10% have confirmed genetic causes. PRKN is the most common gene responsible for early-onset Parkinson's disease (EOPD), while rare variants of PLA2G6 likely raise PD susceptibility in the Chinese population....
Autores principales: | Gao, Chenyu, Huang, Ting, Chen, Rui, Yuan, Zhenhua, Tian, Youyong, Zhang, Yingdong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586315/ https://www.ncbi.nlm.nih.gov/pubmed/33154736 http://dx.doi.org/10.3389/fneur.2020.582323 |
Ejemplares similares
-
Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
por: Fan, Kuan, et al.
Publicado: (2019) -
Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease
por: Li, Tianbai, et al.
Publicado: (2020) -
Two Different
PRKN
Compound Heterozygous Variants Combinations in the Same Family
por: Biehler, Margaux, et al.
Publicado: (2023) -
Han Chinese family with early‐onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene
por: Huang, Ting, et al.
Publicado: (2019) -
ASXL1 frameshift mutations drive inferior outcomes in CMML without negative impact in MDS
por: Sallman, David A, et al.
Publicado: (2017)